The Psychological Burden of Watchful Waiting: Anxiety and Depression Linked to Increased Rupture Risk and Mortality in Unruptured Intracranial Aneurysms

The Psychological Burden of Watchful Waiting: Anxiety and Depression Linked to Increased Rupture Risk and Mortality in Unruptured Intracranial Aneurysms

A large-scale retrospective study reveals that anxiety and depression following the diagnosis of unruptured intracranial aneurysms significantly increase the risk of rupture and all-cause mortality, suggesting that integrated psychiatric assessment is a critical component of neurovascular management.
Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants

Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants

A systematic analysis reveals that the pathogenicity of loss-of-function variants in MODY genes is gene-specific and dependent on nonsense-mediated decay status. Crucially, NMD-escape variants in the INS gene represent a novel, clinically distinct cause of MODY, improving diagnostic precision for monogenic diabetes.
Precision Risk Stratification in Cushing’s Disease: Integrating USP8 Genotype and Tumor Size to Predict Long-Term Recurrence

Precision Risk Stratification in Cushing’s Disease: Integrating USP8 Genotype and Tumor Size to Predict Long-Term Recurrence

An international cohort study demonstrates that combining USP8 genotype with tumor size significantly improves the prediction of recurrence in Cushing's disease, identifying high-risk patients even among those with low postoperative cortisol levels, paving the way for personalized long-term follow-up.